Term Name: | asphyxiating thoracic dystrophy 1 |
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Synonyms: | ATD1, short-rib thoracic dysplasia 1 with or without polydactyly, SRTD1 |
Definition: | An asphyxiating thoracic dystrophy associated with variation in the region 15q13. |
Ontology: | Human Disease [DOID:0110085] ( DOID:0110085 ) |